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Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N, Lenz D, Baric I, Crushell E, Vici CD, Distelmaier F, Feillet F, Freisinger P, Hempel M, Khoreva AL, Laass MW, Lacassie Y, Lainka E, Larson-Nath C, Li Z, Lipiński P, Lurz E, Mégarbané A, Nobre S, Olivieri G, Peters B, Prontera P, Schlieben LD, Seroogy CM, Sobacchi C, Suzuki S, Tran C, Vockley J, Wang JS, Wagner M, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Staufner C. Hammann N, et al. Among authors: distelmaier f. Mol Genet Metab. 2024 Mar;141(3):108118. doi: 10.1016/j.ymgme.2023.108118. Epub 2024 Jan 11. Mol Genet Metab. 2024. PMID: 38244286 Free article.
Status epilepticus due to attempted suicide with isoniazid.
Tibussek D, Mayatepek E, Distelmaier F, Rosenbaum T. Tibussek D, et al. Among authors: distelmaier f. Eur J Pediatr. 2006 Feb;165(2):136-7. doi: 10.1007/s00431-005-0007-x. Epub 2005 Oct 7. Eur J Pediatr. 2006. PMID: 16211398 No abstract available.
A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.
Ngu LH, Nijtmans LG, Distelmaier F, Venselaar H, van Emst-de Vries SE, van den Brand MA, Stoltenborg BJ, Wintjes LT, Willems PH, van den Heuvel LP, Smeitink JA, Rodenburg RJ. Ngu LH, et al. Among authors: distelmaier f. Biochim Biophys Acta. 2012 Feb;1822(2):168-75. doi: 10.1016/j.bbadis.2011.10.012. Epub 2011 Oct 20. Biochim Biophys Acta. 2012. PMID: 22036843 Free article.
UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors.
Jachimowicz RD, Beleggia F, Isensee J, Velpula BB, Goergens J, Bustos MA, Doll MA, Shenoy A, Checa-Rodriguez C, Wiederstein JL, Baranes-Bachar K, Bartenhagen C, Hertwig F, Teper N, Nishi T, Schmitt A, Distelmaier F, Lüdecke HJ, Albrecht B, Krüger M, Schumacher B, Geiger T, Hoon DSB, Huertas P, Fischer M, Hucho T, Peifer M, Ziv Y, Reinhardt HC, Wieczorek D, Shiloh Y. Jachimowicz RD, et al. Among authors: distelmaier f. Cell. 2019 Jan 24;176(3):505-519.e22. doi: 10.1016/j.cell.2018.11.024. Epub 2019 Jan 3. Cell. 2019. PMID: 30612738 Free article.
OXPHOS mutations and neurodegeneration.
Koopman WJ, Distelmaier F, Smeitink JA, Willems PH. Koopman WJ, et al. Among authors: distelmaier f. EMBO J. 2013 Jan 9;32(1):9-29. doi: 10.1038/emboj.2012.300. Epub 2012 Nov 13. EMBO J. 2013. PMID: 23149385 Free PMC article. Review.
137 results